Linked Data
ClinVar Variation Id:
51057
ClinVar RCV Id:
RCV000043730
RCV000112852
RCV000500767
RCV000679152
RCV001017039
RCV001818216
RCV003460558
dbSNP Id:
rs80358404
gnomAD v2:
13-32972880-C-A
gnomAD v4:
13-32398743-C-A
PubMed:
PMID:10923033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398743C>A , CM000675.2:g.32398743C>A | GRCh38 |
| NC_000013.10:g.32972880C>A , CM000675.1:g.32972880C>A | GRCh37 |
| NC_000013.9:g.31870880C>A | NCBI36 |
| NG_012772.3:g.88264C>A , LRG_293:g.88264C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*753C>A | ENSP00000434898.2:n.*753C>A | |
| ENST00000528762.2:c.*1597C>A | ENSP00000433168.2:n.*1597C>A | |
| ENST00000530893.7:c.9861C>A | ENSP00000499438.2:p.Asp3287Glu | |
| ENST00000665585.2:c.*1792C>A | ENSP00000499570.2:n.*1792C>A | |
| ENST00000700202.2:c.10179C>A | ENSP00000514856.2:p.Asp3393Glu | |
| ENST00000700202.1:c.2646C>A | ENSP00000514856.1:p.Asp882Glu | |
| ENST00000700203.1:n.2357C>A | ||
| ENST00000380152.8:c.10230C>A MANE Select | ENSP00000369497.3:p.Asp3410Glu | |
| ENST00000544455.6:c.10230C>A | ENSP00000439902.1:p.Asp3410Glu | |
| ENST00000614259.2:c.10238C>A | ENSP00000506251.1:n.10238C>A | |
| ENST00000680887.1:c.10230C>A | ENSP00000505508.1:p.Asp3410Glu | |
| ENST00000380152.7:c.10230C>A | ENSP00000369497.3:p.Asp3410Glu | |
| ENST00000544455.5:c.10230C>A | ENSP00000439902.1:p.Asp3410Glu | |
| NM_000059.3:c.10230C>A , LRG_293t1:c.10230C>A | NP_000050.2:p.Asp3410Glu | |
| XM_011535203.1:c.10230C>A | XP_011533505.1:p.Asp3410Glu | |
| XM_011535204.1:c.10134C>A | XP_011533506.1:p.Asp3378Glu | |
| NM_000059.4:c.10230C>A MANE Select | NP_000050.3:p.Asp3410Glu |